Talaromyces marneffei infection with IFNGR1 gene mutation in a patient with negative Anti-Interferon-γ autoantibodies

Background: Talaromyces Marneffei (TM) is a rare opportunistic pathogen that mostly infects patients with low immunity compared to those with normal immunity. It may be related to immune deficiency or genetic factors. Objective: To evaluate the gene mutation of a patient infected with TM in an endemic area with negative anti-interferon-gamma autoantibodies, and negative human immunodeficiency virus (HIV) infection. Methods: Extract deoxyribonucleic acid (DNA) samples from the patient's peripheral blood, detect the mutation gene by whole exome sequencing (WES), and carry out Sanger sequencing verification for the detected mutation gene. Results: The authors detected a mutation in the IFNGR1 gene (NM_001363526.1) and validated the detected gene mutation using Sanger sequencing. The results showed a heterozygous mutation c.4C>T (p.L2F) located in the IFNGR1 gene (NM_001363526.1). Study limitations: The mechanism of the IFNGR1 gene has not been further investigated in this study. Conclusions: The IFNGR1 gene mutation may be a potential risk factor for TM infection, and the presence of anti-interferon-gamma autoantibodies can aggravate disease symptoms. (c) 2023 Sociedade Brasileira de Dermatologia. Published by Elsevier Espana, S.L.U. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).